Genetic study of renal artery fibromuscular dysplasia

The aim of this study was to conduct a formal pedigree analysis of the involvement of the elastin gene in families. From 140 subjects with renal FMD documented on angiography, family cases with documented renal artery fibromuscular dysplasia (FMD) and to test pedigrees were constructed and familial cases defined by angiographic evidence of FMD in at least one sibling. Familial screening was made either by echodoppler for asymptomatic subjects or by digital intravenous angiography for hypertensive subjects. Linkage analysis at the elastin gene locus was performed in these families with two polymorphic markers: one diallelic RFLP located in exon 16 and one multiallelic CA repeat located in intron 17 of the elastin gene. Fourteen pedigrees (10%) were obtained including nine sibling pairs, four trios and one vertical transmission from a father to his daughter. Most affected subjects were females (84%) but familial cases were more frequently bilateral than sporadic cases (80% vs 49%, p = 0.07). Pedigrees analysis was compatible with an autosomal dominant mode of inheritance and suggested in these families an age and sex-dependent incomplete penetrance model. Linkage analysis resulted in a maximum two-point lod score of 0.06 at theta = 0.20 using the dinucleotide CA repeat. Analysis of the diallelic marker revealed similar frequencies in affected and non affected subjects. This study highlights the role of genetics factors in approximately 10% of FMD cases. The elastin gene does not seem to be involved in the pathogenesis of FMD.     

Rupture of a splenic artery aneurysm intra partum

The rupture of a splenic artery aneurysm in pregnancy and during labour is a rare event with a high maternal and fetal mortality rate. This report is, in view of previously reported cases, on the thirteenth case of a ruptured splenic artery aneurysm reporting survival of both mother and fetus. The etiology, clinical signs, diagnosis and therapy are discussed with reference to consideration of the literature. The necessity of an early differential diagnostic consideration of this rare occurrence is discussed, because this is the only way to achieve survival of mother and fetus.     

Renal artery aneurysm: case report of a ruptured calcified renal artery aneurysm

Renal artery aneurysms constitute one per cent of all aneurysms. To our knowledge, this is the first reported case of a calcified saccular arteriosclerotic renal artery aneurysm rupturing. Because the patient was in hemorrhagic shock, nephrectomy was performed. The postoperative course was complicated by acute renal failure, pneumonia, and small-bowel fistula, which responded to hemodialysis, antibiotics, and central hyperalimentation, respectively. This case and review of the literature emphasizes the need for elective revascularization of renal artery aneurysms by primary repair or bypass graft, rather than performing an emergency nephrectomy.     

Post-traumatic hemiplegia in a patient with fibromuscular dysplasia of the carotid artery

A 44-year-old patient, without remarkable medical history, was admitted with a head trauma with initial loss of consciousness and a thoracic trauma. The initial treatment included the insertion of a chest drain for evacuation of a pneumothorax and intrapleural analgesia with bupivacaine. The day after admission, the patient experienced a generalized epileptic crisis, without prodomes. Later, a left proportional hemiplegia with aphasia was recognized. The CT scan obtained immediately after the crisis, as well as the carotid Doppler ultrasonography and echocardiography were normal. The bilateral carotid angiography showed an image of fibromuscular dysplasia of the extracranial segment of the right internal carotid artery. The migration of a carotid thrombus initiated by the trauma was hypothetized. A treatment with a platelet aggregation inhibiting drug was started and associated 20 days later with low molecular weight heparin. The patient recovered a normal motility within 10 days; only the aphasia remained. Trauma of the carotid artery is not a frequent cause of cerebrovascular accident. The occurrence of the latter is favoured by a pre-existing lesion of this artery. This case demonstrates that in a trauma patient not all central nervous system manifestations are initiated by a head trauma.     

Extraorganic hepatic artery aneurysm: failure of transcatheter embolization

BACKGROUND: We evaluated the safety and efficacy of transurethral electrovaporization of the prostate (TVP) as a new alternative treatment for patients with benign prostatic hyperplasia. METHODS: A total of 22 patients with symptomatic benign prostatic hyperplasia, including 4 with urinary retention, underwent TVP. If enough of a cavity was not created after 60 minutes of vaporization, transurethral resection of the prostate (TURP) was performed successively. International Prostate Symptom Score (I-PSS) with quality-of-life index, maximum flow rate, and postvoid residual volume were measured at baseline and at 2 weeks, 1, 3, and 6 months. A pressure-flow study was performed at baseline and at 3 or 6 months after surgery. RESULTS: TURP was required in 10 of 22 patients. At 6 months, mean I-PSS decreased from 20.0 to 5.2, quality-of-life index decreased from 4.6 to 1.1, mean maximum flow rate increased from 6.9 to 16.7 mL/s, and postvoid residual volume decreased from 152 to 32 mL. Detrusor pressure at maximum flow decreased from 108 to 39 cm H2O, with a significant relief of bladder outlet obstruction in 93% of the patients. Mean decrease in hematocrit was 4.4%, and in serum sodium, 4.8 mEq/L. None of the patients required transfusions or had TUR syndrome. A urethral stricture and a severe stress incontinence developed in 1 patient. CONCLUSION: TVP seems to be a safe and effective alternative to a standard TURP associated with fewer intraoperative complications. Although preliminary clinical results have been promising, further study is necessary to establish long-term efficacy and safety of this procedure.     

Fibromuscular dysplasia associated with intracranial giant aneurysm: report of a case

Although the correlation between fibromuscular dysplasia (FMD) and intracranial aneurysm is well established, the combination of FMD with a giant aneurysm is rare. This paper reports a patient with extracranial FMD associated with a giant intracavernous aneurysm compromising the trigeminal and abducens nerve. A review of the literature uncovered only four documented cases of FMD with concurrent giant intracranial aneurysms. The present case adds further weight to the argument for including FMD in the differential diagnosis list when confronted with a patient with a giant intracranial aneurysm. Absence of adequate collaterals in this patient eliminated ligation as a treatment strategy for the aneurysm.     

Fibromuscular dysplasia of the internal carotid artery: a clinicopathological study

A combination of Southern blot analysis on a panel of tumor-derived somatic cell hybrids and fluorescence in situ hybridization techniques was used to map YACs, cosmids and DNA markers from the Xp11.2 region relative to the X chromosome breakpoint of the renal cell carcinoma-associated t(X;1)(p11;q21). The position of the breakpoint could be determined as follows: Xcen-OATL2-DXS146-DXS255-SYP-t(X;1)-TFE 3-OATL1-Xpter. Fluorescence in situ hybridization experiments using TFE3-containing YACs and cosmids revealed split signals indicating that the corresponding DNA inserts span the breakpoint region. Subsequent Southern blot analysis showed that a 2.3-kb EcoRI fragment which is present in all TFE3 cosmids identified, hybridizes to aberrant restriction fragments in three independent t(X;1)-positive renal cell carcinoma DNAs. The breakpoints in these tumors are not the same, but map within a region of approximately 6.5 kb. Through preparative gel electrophoresis an (X;1) chimaeric 4.4-kb EcoRI fragment could be isolated which encompasses the breakpoint region present on der(X). Preliminary characterization of this fragment revealed the presence of a 150-bp region with a strong homology to the 5' end of the mouse TFE3 cDNA in the X-chromosome part, and a 48-bp segment in the chromosome 1-derived part identical to the 5' end of a known EST (accession number R93849). These observations suggest that a fusion gene is formed between the two corresponding genes in t(X;1)(p11;q21)-positive papillary renal cell carcinomas.     

Exclusion of a sciatic artery aneurysm and an obturator bypass

This case report describes surgical treatment in a sciatic artery aneurysm with hypoplastic external iliac and femoral arteries. An obturator bypass grafting procedure from the internal iliac artery to the distal sciatic artery was performed after aneurysmal exclusion was achieved by proximal and distal ligation. This method offers an acceptable option for surgery in some types of sciatic artery aneurysms.     

Dissecting aneurysm of the extracranial vertebral artery causing TIA: a case report

Spontaneous dissecting aneurysm of the extracranial vertebral artery is not frequent. We report a case of dissecting aneurysm of the left extracranial vertebral artery causing TIA. A 44-year-old man was admitted to our hospital with severe occipitalgia of sudden onset on Dec. 21, 1995. On admission, he presented with left hemiparesis and left hemidysesthesia. CT scan and SPECT showed no abnormal findings. His neurological deficits completely improved on the following day. Initial cerebral angiography performed on Dec. 27, 1995 showed pearl and string sign at V3 segment and irregular stenosis at V2 segment suggesting a dissecting aneurysm. We treated conservatively. Repeated angiography performed four weeks after the onset showed resolution of the stenosic lesion and disappearance of the aneurysm. We discussed diagnosis and etiology and treatment of dissecting aneurysm of the extracranial vertebral artery.     

Endoluminal repair of internal carotid artery aneurysm: a feasible but hazardous procedure

PURPOSE: The aim of this study was to report the repair of an aneurysm of the internal carotid artery using the endoluminal method. METHODS: A 70-year-old male patient noted a swelling in the right side of his neck 22 years after endarterectomy of the right internal carotid artery. Duplex ultrasound confirmed the clinical diagnosis of aneurysm of the internal carotid artery. Further investigation included contrast-enhanced computed tomographic (CT) scanning and carotid angiography performed via a retrograde femoral approach. The aneurysm contained thrombus and was 3 cm in diameter and in length. It extended superiorly from a point 0.5 cm above the carotid bifurcation to a point estimated to be 2 cm from the base of the skull. Repair of the aneurysm was undertaken using the endoluminal method. A self-expanding endograft 8 mm in diameter and 4 cm in length was introduced through a 12F sheath in the common carotid artery. An on-table completion angiogram of the right-sided extracranial carotid arteries and the intracranial internal carotid artery and branches was obtained. RESULTS: The completion angiogram and postoperative CT scan confirmed exclusion of the aneurysm sac from the circulation. The patient awoke from anesthesia with complete paralysis of the left arm. Recovery of movement commenced 1 hour later. A brain CT scan demonstrated the event to be an embolic stroke. Strength had returned by 7 days. Function of the arm was good 1 month after operation, but coordination for fine movements was lacking. At the 6-month follow-up, good arm function was maintained. A duplex ultrasound scan demonstrated not only continued exclusion of the aneurysm sac but occlusion of the endograft, also. CONCLUSIONS: Endoluminal repair of aneurysms of the internal carotid artery is feasible but carries the risk of major morbidity as a result of peripheral embolization and early occlusion of the endograft.